1/20. achondroplasia-hypochondroplasia complex in a newborn infant.We describe the case of an 8-month-old girl with achondroplasia-hypochondroplasia complex. The diagnosis was suggested antenatally when obstetrical ultrasonography at 27 weeks of gestation showed short limbs, small chest, and macrocephaly. The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene. Neither had had genetic counseling or molecular testing prior to the pregnancy. Antenatal ultrasound study at 29 weeks of gestation showed a large head, very short limbs, and a small chest; the findings were more severe than in achondroplasia or hypochondroplasia alone. The patient was born by cesarean section at 37 weeks of gestation and had rhizomelic shortness of limbs with excess skin creases, large head, and small chest, diagnostic of achondroplasia. Radiographs showed shortness of the long bones and flaring of the metaphyses. She had mild hypoplasia of lungs. Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex. At 8 months, she has disproportionate shortness of the long bones and a large head with frontal bossing and a depressed nasal bridge. Her chest remains small, and she is on home oxygen at times of respiratory stress. She has a large gibbus. She is delayed in her motor development and has significant head lag. To our knowledge, there is only one previously published report of achondroplasia-hypochondroplasia complex.- - - - - - - - - - ranking = 1keywords = chest (Clic here for more details about this article) |
2/20. Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.We report on a male newborn infant, a compound carrier of heterozygous mutations in the FGFR3 gene causing achondroplasia and hypochondroplasia. The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene. The fetus was found to carry both mutations diagnosed prenatally by amniocentesis at 17.6 weeks of gestation, following maternal serum screening which showed an increased risk for down syndrome (1:337). Detailed fetal ultrasound studies showed a large head, short limbs, and a small chest at 22 weeks of gestation. The changes were more severe than those of either achondroplasia or hypochondroplasia. The patient was born by cesarean section at 38 weeks of gestation and had rhizomelic shortness of the upper and lower limbs with excess skin folds, large head, enlarged fontanelles, frontal bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest. Skeletal radiographs showed shortness of the long bones and flare of metaphyses. He had respiratory difficulties and was treated with nasal prongs. seizures developed on day 2 of life and recurred on day 9 and responded to treatment with phenobarbital. brain computed tomographic scan showed possible grey matter heterotopia, partial agenesis of the corpus callosum, and cortical dysplasia. To our knowledge, there are only two previously published cases of compound heterozygous achondroplasia-hypochondroplasia patients. The diagnosis was confirmed by dna mutation analysis of the FGFR3 gene in both cases.- - - - - - - - - - ranking = 1.0475524280375keywords = upper, chest (Clic here for more details about this article) |
3/20. Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.- - - - - - - - - - ranking = 0.25keywords = chest (Clic here for more details about this article) |
4/20. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene. At birth, individuals with this disorder have craniosynostosis, ocular proptosis, midface hypoplasia, choanal atresia, hydrocephalus, and they experience the onset of acanthosis nigricans during childhood. We report three cases and compare the clinical characteristics of our cases with the previously reported cases of this disorder. Since the Ala391Glu substitution in FGFR3 is close to the substitutions in the transmembrane domain that result in achondroplasia, we carefully reviewed the skeletal findings in six patients. We identified subtle radiographic findings of achondroplasia in all six cases including narrow sacrosciatic notches, short vertebral bodies, lack of the normal increase in interpediculate distance from the upper lumbar vertebrae caudally, and broad, short metacarpals and phalanges. Even before acanthosis nigricans appears, the presence of choanal atresia and hydrocephalus in an individual with features of Crouzon syndrome should suggest the diagnosis of CAN, and subtle skeletal findings can lend further support to this diagnosis.- - - - - - - - - - ranking = 0.29755242803751keywords = upper (Clic here for more details about this article) |
5/20. Midface distraction to alleviate upper airway obstruction in achondroplastic dwarfs.OBJECTIVE: The use of midface distraction in patients with achondroplasia and upper airway obstruction secondary to midface hypoplasia has not been reported. In this report, we review the treatment of two patients with severe midface hypoplasia and obstructive sleep apnea secondary to achondroplasia using midface distraction osteogenesis. DESIGN, SETTING, AND patients: Two patients with achondroplastic dwarfism and midface hypoplasia with airway obstruction were treated in a tertiary referral center for craniofacial disorders. RESULTS AND CONCLUSIONS: Both patients had their tracheostomies decannulated after midface distraction of 25 mm. Midface distraction osteogenesis is useful to alleviate upper airway obstruction from midface hypoplasia seen in achondroplasia.- - - - - - - - - - ranking = 1.7853145682251keywords = upper (Clic here for more details about this article) |
6/20. Anaesthetic management of a patient with achondroplasia.A 12-year-old girl diagnosed with achondroplasia was admitted for bilateral ear surgery and adenotonsillectomy. She had classical symptoms and signs of upper airway obstruction, which is often seen in patients with achondroplasia. We describe the anaesthetic management of this patient, emphasizing the airway difficulties encountered and their anaesthetic implications.- - - - - - - - - - ranking = 0.29755242803751keywords = upper (Clic here for more details about this article) |
7/20. Comprehensive correction of the craniofacial deformity in achondroplastic dwarfism.The treatment of this patient serves to demonstrate a craniofacial team approach to a unique and moderately severe problem. By the modification and careful combination of standard techniques, i.e., frontofacial advancement, and Le Fort I and vertical mandibular osteotomy, a good correction has been obtained. Analysis of the problem clearly indicated the need for moving multiple components of the facial skeleton into new positions to provide correction. The upper and lower midface required simultaneous movements in exactly opposite directions to normalize the skeletal deformity. To address the excess forehead height and projection, a modification of the usual frontofacial advancement was necessary. rotation of the frontofacial segment forward inferiorly allowed correction of the orbital deficiency while also allowing shortening of the vertical forehead dimension. This is a deviation from the straight linear advancement usually dissected. Simultaneous retroposition and rotation of the maxilla allowed correction of the plane of occlusion while lengthening the midface. The unique combination and application of standard techniques of craniofacial surgery in this patient allowed a very good result.- - - - - - - - - - ranking = 0.29755242803751keywords = upper (Clic here for more details about this article) |
8/20. Chest wall deformity and respiratory distress in a 17-year-old patient with achondroplasia: CT and MRI evaluation.A marked thoracic deformity associated with intrathoracic tracheal narrowing was seen in a 17-year-old with achondroplasia and dyspnea. The role of chest deformity and its evaluation by CT and MRI in achondroplastic patients with respiratory symptoms are considered.- - - - - - - - - - ranking = 0.25keywords = chest (Clic here for more details about this article) |
9/20. Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature.The authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical sulci and gyri. This aspect was compatible with the diagnosis of macrocrania and megalencephaly (CP being 51 cm). The foramen magnum was narrowed, the transverse diameter measuring 15 mm and the 50th percentile being, for age, 26 mm. Somatosensory evoked potentials (SEPs) revealed bilaterally prolonged interpeak latencies Erb-N13, slowing of central conduction time N13-N20 from right median nerve stimulation, and block from left median nerve. The suspicion of cervicomedullary compression was confirmed by MRI, showing a very marked stenosis with compression exerted by the odontoid process. Further, a stenotic cervical canal and optic nerves verticalization were manifest. The patient underwent neurosurgical decompression by suboccipital craniectomy and cervical-C1 laminectomy. In spite of treatment, both neurologic and respiratory problems (rapid, shallow and almost abdominal breathing) were unchanged. The girl died 4 1/2 months later. The authors emphasize the important role of SEPs in detection of cervicomedullary compression in achondroplastic children and also stress the necessity of an early surgical treatment as the only condition for possible clinical improvement and/or full recovery.- - - - - - - - - - ranking = 64.910325084406keywords = breathing (Clic here for more details about this article) |
10/20. Homozygous achondroplasia: morphologic and biochemical study of cartilage.We have performed histochemical, immunohistochemical, electron microscopic, and biochemical studies on the upper tibial cartilage from a case of homozygous achondroplasia. The growth zone was narrow and disorganized. Columnization was absent except for a few areas with short rows of cells. hypertrophy was reduced to scattered clusters of cells. The provisional calcification was patchy and primary trabeculae were thick and irregularly arranged. islands of fibrous or fibrocartilagineous tissue were found along the growth zone. The matrix did not stain with safranin O and lacked metachromasia, except for pericellular rims around the hypertrophic cell clusters. Staining with antibodies against the large proteoglycan monomers and chondroitin-4-sulfate was weakly positive. Electron microscopic examination showed that only a few cells had degenerative signs. In most areas of the matrix, proteoglycan granules were absent. Areas with dense collagen fibers were seen. In contrast to the growth zone, the cartilage of the remaining epiphyses had normal histochemical, immunohistochemical, and electron microscopic appearance. The large proteoglycan monomers had a normal composition and hydrodynamic size. Type II and XI collagen, pepsin fragments of type IX collagen, and several noncollagenous proteins extracted from cartilage had a normal electrophoretic migration. It is suggested that a mutation affecting a matrix component or a regulatory pathway present only or predominantly in the growth area of the chondroepiphysis might explain the findings.- - - - - - - - - - ranking = 0.29755242803751keywords = upper (Clic here for more details about this article) |
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